CLIC5 (chloride intracellular channel 5)

2016-04-01  

Identity

HGNC
LOCATION
6p21.1
LOCUSID
ALIAS
DFNB102,DFNB103,MST130,MSTP130
FUSION GENES

Other Information

Locus ID:

NCBI: 53405
MIM: 607293
HGNC: 13517
Ensembl: ENSG00000112782

Variants:

dbSNP: 53405
ClinVar: 53405
TCGA: ENSG00000112782
COSMIC: CLIC5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000112782ENST00000185206Q9NZA1
ENSG00000112782ENST00000339561Q9NZA1
ENSG00000112782ENST00000339561Q53G01
ENSG00000112782ENST00000544153Q9NZA1
ENSG00000112782ENST00000642250A0A2R8YGW2
ENSG00000112782ENST00000644324A0A2R8Y615
ENSG00000112782ENST00000644878A0A2R8Y4M1

Expression (GTEx)

0
10
20
30
40
50
60
70

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
180284482007Functional reconstitution of mammalian 'chloride intracellular channels' CLIC1, CLIC4 and CLIC5 reveals differential regulation by cytoskeletal actin.35
151843932004CLIC-5A functions as a chloride channel in vitro and associates with the cortical actin cytoskeleton in vitro and in vivo.29
121634792002AKAP350 at the Golgi apparatus. II. Association of AKAP350 with a novel chloride intracellular channel (CLIC) family member.22
186769882008A high-density association screen of 155 ion transport genes for involvement with common migraine.22
203353152010CLIC5A, a component of the ezrin-podocalyxin complex in glomeruli, is a determinant of podocyte integrity.21
261353982015Co-Expression of Ezrin-CLIC5-Podocalyxin Is Associated with Migration and Invasiveness in Hepatocellular Carcinoma.17
247817542015Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5.13
275401362016CLIC5: a novel ETV6 target gene in childhood acute lymphoblastic leukemia.8
253442522014Clustered PI(4,5)P₂ accumulation and ezrin phosphorylation in response to CLIC5A.4

Citation

Dessen P

CLIC5 (chloride intracellular channel 5)

Atlas Genet Cytogenet Oncol Haematol. 2016-04-01

Online version: http://atlasgeneticsoncology.org/gene/55730/clic5